A18A (p.Ala18Ala) variant of UBQLN2 (Ubiquilin-2)
A18A (p.Ala18Ala) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- gnomAD X-56563927-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available